1p/19q分子遗传学改变在少突胶质细胞瘤和星形细胞瘤鉴别诊断中意义

Significance of molecular genetic alterations of chromosome 1p/19q in differential diagnosis of oligodendroglioma and astrocytoma

目的:探讨1p/19q分子遗传学改变在少突胶质细胞瘤和星形细胞瘤鉴别诊断中的意义。方法:少突胶质细胞瘤和星形细胞瘤共63例,采用荧光原位杂交技术检测染色体1p/19q分子遗传学改变。结果:1p/19q呈多倍体改变5例,其中星形细胞瘤3例,少突胶质细胞瘤2例;1p和19q杂合性缺失58例,其中少突胶质细胞肿瘤41例,星形细胞肿瘤17例。少突胶质细胞瘤染色体1p,19q及1p/19q缺失率分别为65.9%,68.3%和58.5%,星形细胞瘤分别为17.6%,29.4%和17.6%,差异均有统计学意义(P=0.001,P=0.006,P=0.004)。少突胶质细胞瘤中1p/19q杂合性缺失24例,21例(87.5%)有典型少突胶质细胞瘤形态学特征,1p/19q未发生缺失17例,9例(52.9%)有典型组织学特征,差异有统计学意义(P=0.014)。结论:少突胶质细胞瘤1p/19q杂合性缺失率高于星形细胞瘤。组织学特点较典型的少突胶质细胞肿瘤更倾向于合并1p/19q杂合性缺失。1p/19q多倍体多见于星形细胞亚型肿瘤。

Objective To study the significance of molecular genetic alterations of chromosome 1p/19q in differential diagnosis of oligodendroglioma and astrocytoma.Methods Molecular genetic alterations of chromosome 1p/19q were detected with fluorescence in situ hybridization in 63 patients with oligodendroglioma or astrocytoma.Results Polyploid of 1p/19q was in 5 cases（3 cases of astrocytoma and 2 cases of oligodendroglioma）.Loss 1p/19q heterozygosity was in 58 cases（41 cases oligodendroglioma and 17 cases of astrocytoma）.The loss rates of chromosome 1p,19q and 1p/19q were 65.9%,68.5% and 58.5% respectively in 41 cases of oligodendroglioma,and were 17.6%,29.4% and 17.6% respectively in 17 cases of astrocytoma,which showed significant differences between two groups（P=0.001,P=0.006,P=0.004）.Twenty-one cases（87.5%） and 9 cases（52.9%） had typical oligodendrocyte morphological characteristics in 24 oligodendroglioma cases of 1p/19q heterozygosity loss and 17 oligodendroglioma cases of no 1p/19q heterozygosity loss resprctively,which showed significant differences between two groups（P=0.014）.Conclusion Loss rate of 1p/19q heterozygosity is higher in oligodendroglioma than that in astrocytoma,and more likely to occur in oligodendroglioma with typical histological features.Polyploidy of chromosome 1p/19q is more common in astrocytoma subtypes.